DHX58 (DExH-box helicase 58) - Rat Genome Database

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Gene: DHX58 (DExH-box helicase 58) Homo sapiens
Analyze
Symbol: DHX58
Name: DExH-box helicase 58
RGD ID: 1603964
HGNC Page HGNC:29517
Description: Enables several functions, including ATP hydrolysis activity; RNA binding activity; and zinc ion binding activity. Involved in negative regulation of type I interferon production and regulation of innate immune response. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ATP-dependent helicase LGP2; ATP-dependent RNA helicase DHX58; D11LGP2; D11lgp2e; DEXH (Asp-Glu-X-His) box polypeptide 58; LGP2; ortholog of mouse D11lgp2; probable ATP-dependent helicase LGP2; probable ATP-dependent RNA helicase DHX58; protein D11Lgp2 homolog; RIG-I-like receptor 3; RIG-I-like receptor LGP2; RLR; RLR-3; RNA helicase LGP2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381742,101,411 - 42,112,714 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1742,101,404 - 42,112,714 (-)EnsemblGRCh38hg38GRCh38
GRCh371740,253,429 - 40,264,732 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,506,948 - 37,518,277 (-)NCBINCBI36Build 36hg18NCBI36
Celera1736,908,460 - 36,919,789 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1736,018,500 - 36,029,831 (-)NCBIHuRef
CHM1_11740,489,197 - 40,500,526 (-)NCBICHM1_1
T2T-CHM13v2.01742,957,915 - 42,969,232 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-alpha-phellandrene  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aldehydo-D-glucose  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (EXP)
butanal  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (ISO)
CU-O LINKAGE  (EXP)
Cuprizon  (ISO)
D-glucose  (ISO)
DDE  (EXP)
dexamethasone  (EXP)
diethyl malate  (ISO)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
folic acid  (ISO)
fonofos  (EXP)
fructose  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (ISO)
indometacin  (EXP)
lead diacetate  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP,ISO)
metam  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
nickel atom  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
parathion  (EXP)
pentachlorophenol  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (EXP)
propanal  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
succimer  (ISO)
tamoxifen  (ISO)
terbufos  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triclosan  (EXP)
Triptolide  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:11735219   PMID:12477932   PMID:14702039   PMID:16116171   PMID:16189514   PMID:17020950   PMID:17190814   PMID:18029348   PMID:18411269   PMID:18976975  
PMID:19211564   PMID:19278996   PMID:19403670   PMID:20331378   PMID:21187438   PMID:21244100   PMID:21285412   PMID:21525357   PMID:21791617   PMID:21832049   PMID:21873635   PMID:21903422  
PMID:22185736   PMID:22301134   PMID:22837208   PMID:23184951   PMID:23671710   PMID:24493797   PMID:24550253   PMID:24829334   PMID:25127512   PMID:25288302   PMID:25340845   PMID:25794939  
PMID:28090671   PMID:28483922   PMID:28760986   PMID:28768856   PMID:29351913   PMID:29661858   PMID:29939295   PMID:30179292   PMID:30795861   PMID:30833792   PMID:31237466   PMID:31575732  
PMID:31799626   PMID:32571931   PMID:33087322   PMID:33373584   PMID:33536335   PMID:33727702   PMID:35156720   PMID:36059486   PMID:36152765   PMID:36515138   PMID:36743960   PMID:37314180  
PMID:37336810   PMID:38015453   PMID:38309507  


Genomics

Comparative Map Data
DHX58
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381742,101,411 - 42,112,714 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1742,101,404 - 42,112,714 (-)EnsemblGRCh38hg38GRCh38
GRCh371740,253,429 - 40,264,732 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,506,948 - 37,518,277 (-)NCBINCBI36Build 36hg18NCBI36
Celera1736,908,460 - 36,919,789 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1736,018,500 - 36,029,831 (-)NCBIHuRef
CHM1_11740,489,197 - 40,500,526 (-)NCBICHM1_1
T2T-CHM13v2.01742,957,915 - 42,969,232 (-)NCBIT2T-CHM13v2.0
Dhx58
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911100,585,710 - 100,595,165 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11100,585,710 - 100,595,097 (-)EnsemblGRCm39 Ensembl
GRCm3811100,694,884 - 100,704,271 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11100,694,884 - 100,704,271 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711100,556,198 - 100,565,585 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611100,510,974 - 100,520,361 (-)NCBIMGSCv36mm8
Celera11111,311,383 - 111,320,770 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1163.52NCBI
Dhx58
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81086,120,677 - 86,132,095 (-)NCBIGRCr8
mRatBN7.21085,620,352 - 85,631,776 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1085,620,357 - 85,631,525 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1090,656,819 - 90,667,976 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01090,135,311 - 90,146,556 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01085,528,601 - 85,539,768 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01088,599,722 - 88,611,562 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1088,599,680 - 88,611,105 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01088,393,935 - 88,405,328 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41089,630,145 - 89,641,311 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11089,644,843 - 89,655,680 (-)NCBI
Celera1084,336,054 - 84,347,209 (-)NCBICelera
Cytogenetic Map10q31NCBI
Dhx58
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545116,185,510 - 16,191,719 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545116,186,263 - 16,191,928 (-)NCBIChiLan1.0ChiLan1.0
DHX58
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21922,871,281 - 22,882,643 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11724,761,402 - 24,772,741 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01715,203,216 - 15,214,559 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11715,424,444 - 15,435,588 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1715,424,437 - 15,435,582 (+)Ensemblpanpan1.1panPan2
DHX58
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1920,787,470 - 20,795,593 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl920,787,541 - 20,795,361 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha920,248,380 - 20,256,796 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0921,506,211 - 21,514,628 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl921,506,251 - 21,514,678 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1920,291,486 - 20,299,903 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0920,558,608 - 20,567,025 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0920,661,655 - 20,670,075 (+)NCBIUU_Cfam_GSD_1.0
Dhx58
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560220,125,092 - 20,134,409 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649016,940,540 - 16,950,085 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649016,940,776 - 16,949,836 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DHX58
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1220,647,699 - 20,656,683 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11220,647,698 - 20,656,691 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21220,937,850 - 20,946,843 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DHX58
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11664,154,832 - 64,166,480 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1664,154,984 - 64,166,500 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607734,971,770 - 34,983,754 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dhx58
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247951,787,958 - 1,794,692 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247951,787,958 - 1,793,475 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DHX58
68 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
NM_021078.2(KAT2A):c.2279C>T (p.Ser760Leu) single nucleotide variant Malignant melanoma [RCV000071487] Chr17:42114041 [GRCh38]
Chr17:40266059 [GRCh37]
Chr17:37519585 [NCBI36]
Chr17:17q21.2		 not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_024119.3(DHX58):c.1910G>A (p.Ser637Asn) single nucleotide variant See cases [RCV001374375] Chr17:42101888 [GRCh38]
Chr17:40253906 [GRCh37]
Chr17:17q21.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_024119.3(DHX58):c.1220G>A (p.Gly407Glu) single nucleotide variant not specified [RCV004290390] Chr17:42105767 [GRCh38]
Chr17:40257785 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.67T>C (p.Trp23Arg) single nucleotide variant not specified [RCV004327358] Chr17:42111826 [GRCh38]
Chr17:40263844 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1022T>C (p.Leu341Ser) single nucleotide variant not specified [RCV004321744] Chr17:42105965 [GRCh38]
Chr17:40257983 [GRCh37]
Chr17:17q21.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_024119.3(DHX58):c.1123C>T (p.Arg375Cys) single nucleotide variant not specified [RCV004291912] Chr17:42105864 [GRCh38]
Chr17:40257882 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1429_1430del (p.Ser477fs) microsatellite not provided [RCV000899631] Chr17:42104899..42104900 [GRCh38]
Chr17:40256917..40256918 [GRCh37]
Chr17:17q21.2		 likely benign
NM_024119.3(DHX58):c.1828A>T (p.Ile610Phe) single nucleotide variant not specified [RCV004306180] Chr17:42102239 [GRCh38]
Chr17:40254257 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1448C>T (p.Ala483Val) single nucleotide variant not specified [RCV004321077] Chr17:42104881 [GRCh38]
Chr17:40256899 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.472C>T (p.Gln158Ter) single nucleotide variant See cases [RCV001839460] Chr17:42110812 [GRCh38]
Chr17:40262830 [GRCh37]
Chr17:17q21.2		 likely pathogenic|likely benign
NM_024119.3(DHX58):c.1274A>G (p.Gln425Arg) single nucleotide variant not provided [RCV001694857] Chr17:42105145 [GRCh38]
Chr17:40257163 [GRCh37]
Chr17:17q21.2		 benign
NM_024119.3(DHX58):c.1601C>T (p.Ala534Val) single nucleotide variant not specified [RCV004315219] Chr17:42103761 [GRCh38]
Chr17:40255779 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.675_676insT (p.Gln226fs) insertion DHX58-associated Neurodevelopmental disorder [RCV002275651] Chr17:42109272..42109273 [GRCh38]
Chr17:40261290..40261291 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.942C>A (p.His314Gln) single nucleotide variant not specified [RCV004319539] Chr17:42107659 [GRCh38]
Chr17:40259677 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1357G>A (p.Val453Met) single nucleotide variant not specified [RCV004141768] Chr17:42105062 [GRCh38]
Chr17:40257080 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1549G>A (p.Glu517Lys) single nucleotide variant not specified [RCV004290913] Chr17:42104780 [GRCh38]
Chr17:40256798 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.520G>A (p.Gly174Arg) single nucleotide variant not specified [RCV004159713] Chr17:42110764 [GRCh38]
Chr17:40262782 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.955C>G (p.Gln319Glu) single nucleotide variant not specified [RCV004196098] Chr17:42107646 [GRCh38]
Chr17:40259664 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.929A>G (p.Tyr310Cys) single nucleotide variant not specified [RCV004107374] Chr17:42107672 [GRCh38]
Chr17:40259690 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.20A>T (p.Gln7Leu) single nucleotide variant not specified [RCV004162368] Chr17:42111873 [GRCh38]
Chr17:40263891 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.275A>G (p.His92Arg) single nucleotide variant not specified [RCV004210715] Chr17:42111391 [GRCh38]
Chr17:40263409 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.2023C>T (p.Leu675Phe) single nucleotide variant not specified [RCV004214326] Chr17:42101775 [GRCh38]
Chr17:40253793 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.197A>C (p.Glu66Ala) single nucleotide variant not specified [RCV004124643] Chr17:42111469 [GRCh38]
Chr17:40263487 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1195C>T (p.Arg399Trp) single nucleotide variant not specified [RCV004214089] Chr17:42105792 [GRCh38]
Chr17:40257810 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.118C>T (p.Arg40Trp) single nucleotide variant not specified [RCV004169797] Chr17:42111775 [GRCh38]
Chr17:40263793 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.363G>C (p.Glu121Asp) single nucleotide variant not specified [RCV004112951] Chr17:42111303 [GRCh38]
Chr17:40263321 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1823G>T (p.Gly608Val) single nucleotide variant not specified [RCV004127040] Chr17:42102244 [GRCh38]
Chr17:40254262 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.2029C>G (p.Leu677Val) single nucleotide variant not specified [RCV004172141] Chr17:42101769 [GRCh38]
Chr17:40253787 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1001G>A (p.Arg334His) single nucleotide variant not specified [RCV004211001] Chr17:42105986 [GRCh38]
Chr17:40258004 [GRCh37]
Chr17:17q21.2		 likely benign
NM_024119.3(DHX58):c.182C>G (p.Thr61Ser) single nucleotide variant not specified [RCV004094929] Chr17:42111484 [GRCh38]
Chr17:40263502 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.407C>T (p.Thr136Met) single nucleotide variant not specified [RCV004226217] Chr17:42110877 [GRCh38]
Chr17:40262895 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1539G>T (p.Met513Ile) single nucleotide variant not specified [RCV004087886] Chr17:42104790 [GRCh38]
Chr17:40256808 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1313C>A (p.Thr438Lys) single nucleotide variant not specified [RCV004197772] Chr17:42105106 [GRCh38]
Chr17:40257124 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1291A>G (p.Thr431Ala) single nucleotide variant not specified [RCV004148111] Chr17:42105128 [GRCh38]
Chr17:40257146 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.535G>A (p.Asp179Asn) single nucleotide variant not specified [RCV004230797] Chr17:42110749 [GRCh38]
Chr17:40262767 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.421G>A (p.Val141Ile) single nucleotide variant not specified [RCV004202405] Chr17:42110863 [GRCh38]
Chr17:40262881 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1130G>A (p.Arg377His) single nucleotide variant not specified [RCV004109512] Chr17:42105857 [GRCh38]
Chr17:40257875 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.409C>T (p.His137Tyr) single nucleotide variant not specified [RCV004184111] Chr17:42110875 [GRCh38]
Chr17:40262893 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1316G>A (p.Ser439Asn) single nucleotide variant not specified [RCV004243948] Chr17:42105103 [GRCh38]
Chr17:40257121 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1129C>T (p.Arg377Cys) single nucleotide variant not specified [RCV004079881] Chr17:42105858 [GRCh38]
Chr17:40257876 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1438G>A (p.Ala480Thr) single nucleotide variant not specified [RCV004603360] Chr17:42104891 [GRCh38]
Chr17:40256909 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1642C>A (p.Pro548Thr) single nucleotide variant not specified [RCV004157312] Chr17:42103720 [GRCh38]
Chr17:40255738 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1816C>G (p.Pro606Ala) single nucleotide variant not specified [RCV004269209] Chr17:42102251 [GRCh38]
Chr17:40254269 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.671G>A (p.Arg224His) single nucleotide variant not specified [RCV004254125] Chr17:42109277 [GRCh38]
Chr17:40261295 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1339A>T (p.Ile447Phe) single nucleotide variant not specified [RCV004253605] Chr17:42105080 [GRCh38]
Chr17:40257098 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1561A>C (p.Lys521Gln) single nucleotide variant not specified [RCV004253009] Chr17:42104768 [GRCh38]
Chr17:40256786 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.939G>T (p.Glu313Asp) single nucleotide variant not specified [RCV004322086] Chr17:42107662 [GRCh38]
Chr17:40259680 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.95G>A (p.Arg32Gln) single nucleotide variant not specified [RCV004260583] Chr17:42111798 [GRCh38]
Chr17:40263816 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.265G>C (p.Gly89Arg) single nucleotide variant not specified [RCV004328650] Chr17:42111401 [GRCh38]
Chr17:40263419 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1619G>A (p.Arg540Gln) single nucleotide variant not specified [RCV004351926] Chr17:42103743 [GRCh38]
Chr17:40255761 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1463G>A (p.Arg488Gln) single nucleotide variant not specified [RCV004334633] Chr17:42104866 [GRCh38]
Chr17:40256884 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.218G>A (p.Gly73Glu) single nucleotide variant not specified [RCV004352507] Chr17:42111448 [GRCh38]
Chr17:40263466 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1795A>G (p.Lys599Glu) single nucleotide variant not specified [RCV004355036] Chr17:42102272 [GRCh38]
Chr17:40254290 [GRCh37]
Chr17:17q21.2		 uncertain significance
GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3 copy number gain not specified [RCV003987235] Chr17:39705863..40358580 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1196G>C (p.Arg399Pro) single nucleotide variant not specified [RCV004373662] Chr17:42105791 [GRCh38]
Chr17:40257809 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1513C>G (p.Gln505Glu) single nucleotide variant not specified [RCV004373664] Chr17:42104816 [GRCh38]
Chr17:40256834 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1846G>T (p.Gly616Trp) single nucleotide variant not specified [RCV004373668] Chr17:42102221 [GRCh38]
Chr17:40254239 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.205C>T (p.Arg69Cys) single nucleotide variant not specified [RCV004373670] Chr17:42111461 [GRCh38]
Chr17:40263479 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.830A>G (p.Gln277Arg) single nucleotide variant not specified [RCV004373672] Chr17:42107771 [GRCh38]
Chr17:40259789 [GRCh37]
Chr17:17q21.2		 likely benign
NM_024119.3(DHX58):c.942C>G (p.His314Gln) single nucleotide variant not specified [RCV004373674] Chr17:42107659 [GRCh38]
Chr17:40259677 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1511A>G (p.Glu504Gly) single nucleotide variant not specified [RCV004373663] Chr17:42104818 [GRCh38]
Chr17:40256836 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1626C>A (p.Asn542Lys) single nucleotide variant not specified [RCV004373666] Chr17:42103736 [GRCh38]
Chr17:40255754 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1631G>A (p.Arg544Gln) single nucleotide variant not specified [RCV004373667] Chr17:42103731 [GRCh38]
Chr17:40255749 [GRCh37]
Chr17:17q21.2		 likely benign
NM_024119.3(DHX58):c.364C>T (p.Leu122Phe) single nucleotide variant not specified [RCV004373671] Chr17:42111302 [GRCh38]
Chr17:40263320 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.911C>T (p.Ala304Val) single nucleotide variant not specified [RCV004373673] Chr17:42107690 [GRCh38]
Chr17:40259708 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.205C>A (p.Arg69Ser) single nucleotide variant not specified [RCV004373669] Chr17:42111461 [GRCh38]
Chr17:40263479 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.1469T>C (p.Leu490Pro) single nucleotide variant not specified [RCV004616234] Chr17:42104860 [GRCh38]
Chr17:40256878 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_024119.3(DHX58):c.34A>C (p.Met12Leu) single nucleotide variant not specified [RCV004616233] Chr17:42111859 [GRCh38]
Chr17:40263877 [GRCh37]
Chr17:17q21.2		 uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2342
Count of miRNA genes:846
Interacting mature miRNAs:1013
Transcripts:ENST00000251642, ENST00000413196, ENST00000430773, ENST00000586522, ENST00000589979, ENST00000590637, ENST00000591220, ENST00000592024
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407114628GWAS763604_Hhigh density lipoprotein cholesterol measurement QTL GWAS763604 (human)0.0000008high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)174210514542105146Human
407293541GWAS942517_Hbody height QTL GWAS942517 (human)1e-68body height (VT:0001253)body height (CMO:0000106)174210448042104481Human
407060839GWAS709815_Hfasting blood glucose measurement QTL GWAS709815 (human)0.0000003fasting blood glucose measurementblood glucose level (CMO:0000046)174210952742109528Human
407115826GWAS764802_Hmean corpuscular volume QTL GWAS764802 (human)2e-10mean corpuscular volumemean corpuscular volume (CMO:0000038)174210610942106110Human
407202578GWAS851554_Haging QTL GWAS851554 (human)5e-10aging174211144042111441Human
407089129GWAS738105_Hcoronary artery disease QTL GWAS738105 (human)2e-10coronary artery disease174210514542105146Human
407089001GWAS737977_Hcoronary artery disease QTL GWAS737977 (human)0.0000003coronary artery disease174211144042111441Human
407116475GWAS765451_Hhigh density lipoprotein cholesterol measurement QTL GWAS765451 (human)0.000004high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)174210514542105146Human

Markers in Region
A005Q17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,265,143 - 40,265,304UniSTSGRCh37
Build 361737,518,669 - 37,518,830RGDNCBI36
Celera1736,920,181 - 36,920,342RGD
Cytogenetic Map17q21UniSTS
Cytogenetic Map17q21.2UniSTS
HuRef1736,030,223 - 36,030,384UniSTS
GeneMap99-GB4 RH Map17308.29UniSTS
NCBI RH Map17471.4UniSTS
D17S1251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,254,076 - 40,254,258UniSTSGRCh37
Build 361737,507,602 - 37,507,784RGDNCBI36
Celera1736,909,114 - 36,909,296RGD
Cytogenetic Map17q21.2UniSTS
HuRef1736,019,154 - 36,019,336UniSTS
SHGC-57271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,253,654 - 40,253,847UniSTSGRCh37
Build 361737,507,180 - 37,507,373RGDNCBI36
Celera1736,908,692 - 36,908,885RGD
Cytogenetic Map17q21.2UniSTS
HuRef1736,018,732 - 36,018,925UniSTS
TNG Radiation Hybrid Map1718950.0UniSTS
LGP2__6393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,253,368 - 40,253,949UniSTSGRCh37
Build 361737,506,894 - 37,507,475RGDNCBI36
Celera1736,908,406 - 36,908,987RGD
HuRef1736,018,446 - 36,019,027UniSTS
GCN5L2_3982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,265,123 - 40,265,861UniSTSGRCh37
Build 361737,518,649 - 37,519,387RGDNCBI36
Celera1736,920,161 - 36,920,899RGD
HuRef1736,030,203 - 36,030,941UniSTS
SHGC-31964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,265,155 - 40,265,281UniSTSGRCh37
Build 361737,518,681 - 37,518,807RGDNCBI36
Celera1736,920,193 - 36,920,319RGD
Cytogenetic Map17q21UniSTS
Cytogenetic Map17q21.2UniSTS
HuRef1736,030,235 - 36,030,361UniSTS
GeneMap99-GB4 RH Map17309.33UniSTS
Whitehead-RH Map17343.6UniSTS
G32267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,265,143 - 40,265,304UniSTSGRCh37
Celera1736,920,181 - 36,920,342UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map17q21.2UniSTS
HuRef1736,030,223 - 36,030,384UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1204 2434 2788 2247 4953 1723 2346 4 623 1950 464 2269 7289 6460 52 3716 1 850 1738 1612 172

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_024119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC105024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM723672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR199842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR778083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR778084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR778085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR965977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP350412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP350413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP350414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000251642   ⟹   ENSP00000251642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,101,411 - 42,112,714 (-)Ensembl
Ensembl Acc Id: ENST00000413196   ⟹   ENSP00000416389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,107,693 - 42,112,486 (-)Ensembl
Ensembl Acc Id: ENST00000430773   ⟹   ENSP00000404639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,110,816 - 42,112,463 (-)Ensembl
Ensembl Acc Id: ENST00000586522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,103,213 - 42,112,713 (-)Ensembl
Ensembl Acc Id: ENST00000589979   ⟹   ENSP00000467470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,101,404 - 42,104,907 (-)Ensembl
Ensembl Acc Id: ENST00000590637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,103,608 - 42,107,848 (-)Ensembl
Ensembl Acc Id: ENST00000591220   ⟹   ENSP00000466721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,110,779 - 42,112,714 (-)Ensembl
Ensembl Acc Id: ENST00000592024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,101,600 - 42,102,809 (-)Ensembl
RefSeq Acc Id: NM_024119   ⟹   NP_077024
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,101,411 - 42,112,714 (-)NCBI
GRCh371740,253,422 - 40,264,751 (-)NCBI
Build 361737,506,948 - 37,518,277 (-)NCBI Archive
Celera1736,908,460 - 36,919,789 (-)RGD
HuRef1736,018,500 - 36,029,831 (-)ENTREZGENE
CHM1_11740,489,197 - 40,500,526 (-)NCBI
T2T-CHM13v2.01742,957,915 - 42,969,216 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436724   ⟹   XP_047292680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,101,411 - 42,112,714 (-)NCBI
RefSeq Acc Id: XM_047436725   ⟹   XP_047292681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,101,411 - 42,112,714 (-)NCBI
RefSeq Acc Id: XM_047436726   ⟹   XP_047292682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,102,216 - 42,112,714 (-)NCBI
RefSeq Acc Id: XM_047436727   ⟹   XP_047292683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,105,019 - 42,112,714 (-)NCBI
RefSeq Acc Id: XM_054317164   ⟹   XP_054173139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01742,957,915 - 42,969,232 (-)NCBI
RefSeq Acc Id: XM_054317165   ⟹   XP_054173140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01742,957,915 - 42,969,225 (-)NCBI
RefSeq Acc Id: XM_054317166   ⟹   XP_054173141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01742,958,720 - 42,969,216 (-)NCBI
RefSeq Acc Id: XM_054317167   ⟹   XP_054173142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01742,961,523 - 42,969,227 (-)NCBI
Protein Sequences
Protein RefSeqs NP_077024 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292680 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292681 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292682 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292683 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173139 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173140 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173141 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173142 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH14949 (Get FASTA)   NCBI Sequence Viewer  
  BAB13818 (Get FASTA)   NCBI Sequence Viewer  
  BAG53507 (Get FASTA)   NCBI Sequence Viewer  
  BAG62538 (Get FASTA)   NCBI Sequence Viewer  
  BAH12441 (Get FASTA)   NCBI Sequence Viewer  
  EAW60796 (Get FASTA)   NCBI Sequence Viewer  
  EAW60797 (Get FASTA)   NCBI Sequence Viewer  
  EAW60798 (Get FASTA)   NCBI Sequence Viewer  
  EAW60799 (Get FASTA)   NCBI Sequence Viewer  
  EAW60800 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000251642
  ENSP00000251642.3
  ENSP00000404639.1
  ENSP00000416389
  ENSP00000416389.1
  ENSP00000466721.1
  ENSP00000467470.1
GenBank Protein Q96C10 (Get FASTA)   NCBI Sequence Viewer  
  WMV64485 (Get FASTA)   NCBI Sequence Viewer  
  WPN08162 (Get FASTA)   NCBI Sequence Viewer  
  WPN08163 (Get FASTA)   NCBI Sequence Viewer  
  WPN08164 (Get FASTA)   NCBI Sequence Viewer  
  WQG15660 (Get FASTA)   NCBI Sequence Viewer  
  WWT35916 (Get FASTA)   NCBI Sequence Viewer  
  WWT35917 (Get FASTA)   NCBI Sequence Viewer  
  WWT35918 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_077024   ⟸   NM_024119
- UniProtKB: Q9HAM6 (UniProtKB/Swiss-Prot),   Q96C10 (UniProtKB/Swiss-Prot),   A0AA51U9C6 (UniProtKB/TrEMBL),   B4DV26 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000416389   ⟸   ENST00000413196
Ensembl Acc Id: ENSP00000467470   ⟸   ENST00000589979
Ensembl Acc Id: ENSP00000404639   ⟸   ENST00000430773
Ensembl Acc Id: ENSP00000466721   ⟸   ENST00000591220
Ensembl Acc Id: ENSP00000251642   ⟸   ENST00000251642
RefSeq Acc Id: XP_047292680   ⟸   XM_047436724
- Peptide Label: isoform X1
- UniProtKB: Q96C10 (UniProtKB/Swiss-Prot),   Q9HAM6 (UniProtKB/Swiss-Prot),   A0AA51U9C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292681   ⟸   XM_047436725
- Peptide Label: isoform X1
- UniProtKB: Q96C10 (UniProtKB/Swiss-Prot),   Q9HAM6 (UniProtKB/Swiss-Prot),   A0AA51U9C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292682   ⟸   XM_047436726
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047292683   ⟸   XM_047436727
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054173139   ⟸   XM_054317164
- Peptide Label: isoform X1
- UniProtKB: Q96C10 (UniProtKB/Swiss-Prot),   Q9HAM6 (UniProtKB/Swiss-Prot),   A0AA51U9C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173140   ⟸   XM_054317165
- Peptide Label: isoform X1
- UniProtKB: Q96C10 (UniProtKB/Swiss-Prot),   Q9HAM6 (UniProtKB/Swiss-Prot),   A0AA51U9C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054173141   ⟸   XM_054317166
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173142   ⟸   XM_054317167
- Peptide Label: isoform X3
Protein Domains
Helicase ATP-binding   Helicase C-terminal   RLR CTR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96C10-F1-model_v2 AlphaFold Q96C10 1-678 view protein structure

Promoters
RGD ID:6793703
Promoter ID:HG_KWN:26172
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000257396,   OTTHUMT00000257397,   OTTHUMT00000257398,   UC002HYV.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361737,518,099 - 37,518,599 (-)MPROMDB
RGD ID:7235049
Promoter ID:EPDNEW_H23271
Type:initiation region
Name:DHX58_2
Description:DExH-box helicase 58
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23272  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,111,947 - 42,112,007EPDNEW
RGD ID:7235055
Promoter ID:EPDNEW_H23272
Type:initiation region
Name:DHX58_1
Description:DExH-box helicase 58
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23271  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,112,714 - 42,112,774EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29517 AgrOrtholog
COSMIC DHX58 COSMIC
Ensembl Genes ENSG00000108771 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000251642 ENTREZGENE
  ENST00000251642.8 UniProtKB/Swiss-Prot
  ENST00000413196 ENTREZGENE
  ENST00000413196.6 UniProtKB/TrEMBL
  ENST00000430773.1 UniProtKB/TrEMBL
  ENST00000589979.1 UniProtKB/TrEMBL
  ENST00000591220.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1320.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.170.150.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108771 GTEx
HGNC ID HGNC:29517 ENTREZGENE
Human Proteome Map DHX58 Human Proteome Map
InterPro Helicase/UvrB_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIG-I_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLR_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLR_CTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLR_Helicase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79132 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79132 ENTREZGENE
OMIM 608588 OMIM
PANTHER ATP-DEPENDENT RNA HELICASE DHX58-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE WITH DEATH DOMAIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ResIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIG-I_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIG-I_C-RD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162383566 PharmGKB
PROSITE HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLR_CTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AA51U9C6 ENTREZGENE, UniProtKB/TrEMBL
  B4DV26 ENTREZGENE, UniProtKB/TrEMBL
  C9JE76_HUMAN UniProtKB/TrEMBL
  C9JG98_HUMAN UniProtKB/TrEMBL
  DHX58_HUMAN UniProtKB/Swiss-Prot
  K7EMZ5_HUMAN UniProtKB/TrEMBL
  K7EPP0_HUMAN UniProtKB/TrEMBL
  Q96C10 ENTREZGENE
  Q9HAM6 ENTREZGENE
UniProt Secondary Q9HAM6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-04 DHX58  DExH-box helicase 58    DEXH-box helicase 58  Symbol and/or name change 5135510 APPROVED
2016-01-12 DHX58  DEXH-box helicase 58    DEXH (Asp-Glu-X-His) box polypeptide 58  Symbol and/or name change 5135510 APPROVED